Linked Data
ClinVar Variation Id:
1170996
dbSNP Id:
rs2137612961
gnomAD v4:
13-32376732-CAAGATGGTGCAGAGCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376733_32376749del , CM000675.2:g.32376733_32376749del | GRCh38 |
| NC_000013.10:g.32950870_32950886del , CM000675.1:g.32950870_32950886del | GRCh37 |
| NC_000013.9:g.31848870_31848886del | NCBI36 |
| NG_012772.3:g.66254_66270del , LRG_293:g.66254_66270del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8696_8712del | ENSP00000434898.2:p.Gln2899LeufsTer2 | |
| ENST00000528762.2:c.*63_*79del | ENSP00000433168.2:n.*63_*79del | |
| ENST00000530893.7:c.8327_8343del | ENSP00000499438.2:p.Gln2776LeufsTer2 | |
| ENST00000665585.2:c.*258_*274del | ENSP00000499570.2:n.*258_*274del | |
| ENST00000666593.2:c.8696_8712del | ENSP00000499256.2:p.Gln2899LeufsTer2 | |
| ENST00000700202.2:c.8696_8712del | ENSP00000514856.2:p.Gln2899LeufsTer2 | |
| ENST00000700202.1:c.1163_1179del | ENSP00000514856.1:p.Gln388LeufsTer2 | |
| ENST00000700203.1:n.823_839del | ||
| ENST00000380152.8:c.8696_8712del MANE Select | ENSP00000369497.3:p.Gln2899LeufsTer2 | |
| ENST00000544455.6:c.8696_8712del | ENSP00000439902.1:p.Gln2899LeufsTer2 | |
| ENST00000614259.2:c.8704_8720del | ENSP00000506251.1:n.8704_8720del | |
| ENST00000665585.1:c.1574_1590del | ||
| ENST00000680887.1:c.8696_8712del | ENSP00000505508.1:p.Gln2899LeufsTer2 | |
| ENST00000380152.7:c.8696_8712del | ENSP00000369497.3:p.Gln2899LeufsTer2 | |
| ENST00000528762.1:c.258_274del | ENSP00000433168.1:n.258_274del | |
| ENST00000544455.5:c.8696_8712del | ENSP00000439902.1:p.Gln2899LeufsTer2 | |
| NM_000059.3:c.8696_8712del , LRG_293t1:c.8696_8712del | NP_000050.2:p.Gln2899LeufsTer2 | |
| XM_011535203.1:c.8696_8712del | XP_011533505.1:p.Gln2899LeufsTer2 | |
| XM_011535204.1:c.8600_8616del | XP_011533506.1:p.Gln2867LeufsTer2 | |
| XM_011535205.1:c.8696_8712del | XP_011533507.1:p.Gln2899LeufsTer2 | |
| NM_000059.4:c.8696_8712del MANE Select | NP_000050.3:p.Gln2899LeufsTer2 |